Seqanswers Leaderboard Ad

Collapse

Announcement

Collapse
No announcement yet.
X
 
  • Filter
  • Time
  • Show
Clear All
new posts

  • some variants disappear after bcftools norm

    Hello,

    I noticed that when performing left-normalization on my vcf file (as suggested by Annovar at http://annovar.openbioinformatics.or.../articles/VCF/), the number of variants is reduced:

    My starting vcf file (ex1.vcf.gz) has 425 variants.

    I first split multi-allelic variants calls into separate lines with the command "bcftools norm -m-both -o ex1.step1.vcf ex1.vcf.gz".
    The file produced (ex1.step1.vcf) has 425 variants.

    Then I perform the actual left-normalization with the command "bcftools norm -f hg19.fa -o ex1.step2.vcf ex1.step1.vcf".
    The file produced (ex1.step2.vcf) has 181 variants.

    In fact there are some variants in ex1.step1.vcf that can't be found in ex1.step2.vcf.

    I don't understand why the number of variants is reduced when I perform left-normalization, are the variants also filtered when I run these commands? Why?

    (I'm using bcftools 1.2)

    Thanks in advance

Latest Articles

Collapse

  • seqadmin
    Recent Advances in Sequencing Analysis Tools
    by seqadmin


    The sequencing world is rapidly changing due to declining costs, enhanced accuracies, and the advent of newer, cutting-edge instruments. Equally important to these developments are improvements in sequencing analysis, a process that converts vast amounts of raw data into a comprehensible and meaningful form. This complex task requires expertise and the right analysis tools. In this article, we highlight the progress and innovation in sequencing analysis by reviewing several of the...
    Today, 07:48 AM
  • seqadmin
    Essential Discoveries and Tools in Epitranscriptomics
    by seqadmin




    The field of epigenetics has traditionally concentrated more on DNA and how changes like methylation and phosphorylation of histones impact gene expression and regulation. However, our increased understanding of RNA modifications and their importance in cellular processes has led to a rise in epitranscriptomics research. “Epitranscriptomics brings together the concepts of epigenetics and gene expression,” explained Adrien Leger, PhD, Principal Research Scientist...
    04-22-2024, 07:01 AM

ad_right_rmr

Collapse

News

Collapse

Topics Statistics Last Post
Started by seqadmin, Today, 07:17 AM
0 responses
8 views
0 likes
Last Post seqadmin  
Started by seqadmin, 05-02-2024, 08:06 AM
0 responses
19 views
0 likes
Last Post seqadmin  
Started by seqadmin, 04-30-2024, 12:17 PM
0 responses
20 views
0 likes
Last Post seqadmin  
Started by seqadmin, 04-29-2024, 10:49 AM
0 responses
28 views
0 likes
Last Post seqadmin  
Working...
X